Phenotype Details
Phene ID
3054
Name
Coat colour, dilution, PMEL-related
Phene Name
N/A
OMIA ID
1545
Species ID
9913
Characterised
Yes
Characterised Year
2007
Linked Genes
SymbolGene IDChromosomeDescription
PMEL2814875premelanosome protein
Linked Variants
Variant IDPhenotypeGene IDDeleteriousChromosomeGenomicTranscriptProtein
484Coat colour, dilution28148705g.57345303_57345305delNM_001080215.2:c.53_55delNP_001073684.2:p.(L19del)
774Coat colour, dilution28148705NC_037332.1:g.57345315G>ANM_001080215.2:c.64G>ANP_001073684.2:p.(G22R)
Linked Breeds
BreedBreed IDSpecies IDVBO Term
Charolais (Cattle)199913http://purl.obolibrary.org/obo/VBO_0000177
Galloway (Cattle)189913http://purl.obolibrary.org/obo/VBO_0000207
Hereford (Cattle)179913http://purl.obolibrary.org/obo/VBO_0000232
Highland (Cattle)3469913http://purl.obolibrary.org/obo/VBO_0000234
Japanese Brown, Japan (Cattle)3309913http://purl.obolibrary.org/obo/VBO_0004988
Molecular Genetics

GutiƩrrez-Gil et al. (2007): c.64G>A Jolly et al. (2008): c.50_52delTTC Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattle. [Holstein Friesian] calves generated from cells with homozygous edits revealed a strong color dilution effect. ... This ... verified the causative nature of the PMEL mutation for diluting the black coat color in cattle." This study involves genetically modified organisms (GMO). Kimura et al. (2022) reported that the dilute coat colour in the Kumamoto sub-breed of Japanese Brown cattle is due to the c.50_52del; p.(L19del) PMEL variant (OMIA variant 484). Wei et al. (2023) used TALEN genome editing to create the PMEL Leu18del (OMIA variant 484) in Holstein Friesian cattle: "Multiple non-mosaic calves with precision edited genotypes were produced, including calves from high genetic merit parents. Compared to controls, the edited calves showed a strong coat colour dilution which was associated with lower thermal energy absorbance." This study involves genetically modified organisms (GMO).

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